Terkko Navigator / Genetics in Medicine

Highlights of This Issue.

Personalizing medicine with clinical pharmacogenetics.

Expanded carrier screening and the law of unintended consequences: From cystic fibrosis to fragile X.

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions.

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.

A large health system's approach to utilization of the genetic counselor CPT(R) 96040 code.

Feasibility of a pancreatic cancer surveillance program from a psychological point of view.

Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T).

von Hippel-Lindau disease: Surveillance strategy for endolymphatic sac tumors.

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.

Eligibility criteria in private and public coverage policies for BRCA genetic testing and genetic counseling.

College News.

Author: ...

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening.

Issues in genetic testing for ultra-rare diseases: background and introduction.